SCID foals have increased susceptibility to infection by viral, bacterial, fungal and protozoan organisms. The genetic defect results in lack of activity of the enzyme DNA-dependent protein kinase (DNA-PK) which is critical for development of immune system diversity and its ability to protect against infections. The mutation responsible for SCID is a five base pair deletion in the DNA-dependent protein kinase gene resulting in a truncation of the protein. Severe combined immunodeficiency (SCID) is a recessive genetic defect of the immune system that occurs in Arabian and part-Arab horses. Horses with SCID/SCID genotype will have severe combined immunodeficiency, a fatal condition. Matings between two carriers result in a 25% chance of producing an affected foal. They may transmit this severe combined immunodeficiency variant to 50% of their offspring.
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